Research Articles - Other Retinal Diseases
Aerobic exercise is well-known for helping people stay trim, stave off heart disease and improve mood, but a study by researchers at Emory University and the Atlanta Veterans Administration Medical Center suggests that it also can preserve vision in those with retinal degenerative diseases. While the investigation was in mice, the scientists believe the results, published in The Journal of Neuroscience, may translate to humans.
In a research paper recently published in the Proceedings of the National Academy of Sciences, investigators from the University College of London (UCL) reported on their successful integration of stem cell transplants in six mouse models of retinal disease, including those for retinitis pigmentosa (RP), Leber congenital amaurosis and congenital stationary night blindness (CSNB).
The Children’s Hospital of Philadelphia (CHOP) is investing $50 million in Spark Therapeutics, its newly formed spinoff company, to lead its landmark gene-therapy clinical trial for Leber congenital amaurosis (LCA, RPE65 mutations), an inherited form of blindness affecting children, and hemophilia B, an inherited blood-clotting disorder. The company also plans to advance additional gene therapies, including those for other
Drs. Albert Maguire, Katherine High and
Jean Bennett of CHOP
A Foundation-funded research team led by investigators from the University of Pennsylvania has reported that its emerging gene therapy for Best disease, a form of inherited macular degeneration, has cleared all the vision-robbing lesions in canines with the condition. Success in the study moves scientists closer to a human study of the treatment. Dr. Karina Guziewicz in collaboration with
Four research teams, including two funded by the Foundation Fighting Blindness, have found a new gene linked to Leber congenital amaurosis (LCA), a form of retinal degeneration that causes severe vision loss or blindness at birth. Known as NMNAT1, it is the 18th gene linked to LCA. By knowing the gene, researchers are better able to understand why defects in it cause vision loss. The knowledge also helps scientists identify potential targets for vision-saving treatments. Thus far, the researchers have determined that NMNAT1 ultimately plays a key
The study’s lead investigators, Andras Komaromy, D.V.M., Ph.D., and Gustavo Aguirre, V.M.D., Ph.D., presented the results of their FFB-funded achromatopsia study in April 2008 at the annual conference of the Association for Research in Vision and Ophthalmology.
A research team led by Robert Molday, Ph.D., at the University of British Columbia in Vancouver, has moved a step closer to developing a gene therapy for people with Leber congenital amaurosis (LCA) caused by mutations in the gene RD3. The investigators used an RD3 replacement gene therapy to restore photoreceptor function in mice with the condition, and plan to test the treatment in canines with RD3 mutations. Results of their
Ocular Regeneration: Cell Therapy and Regeneration in the Retina
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Foundation-funded researchers at the Radboud University Medical Center in the Netherlands have found that mutations in the gene POC1B can cause cone dystrophy (COD) and cone-rod dystrophy (CRD). These retinal degenerative conditions are characterized by progressive loss of central vision, with CRD also leading to peripheral vision loss. The discovery of harmful defects in POC1B will help scientists diagnose more